MCID: XRD010
MIFTS: 54

Xeroderma Pigmentosum, Variant Type malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Cancer diseases

Aliases & Classifications for Xeroderma Pigmentosum, Variant Type

About this section
Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 65UMLS, 10Disease Ontology, 68Wikipedia, 21GeneReviews, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 36MeSH, 67UniProtKB/Swiss-Prot, 51Orphanet, 24GTR, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Xeroderma Pigmentosum, Variant Type:

Name: Xeroderma Pigmentosum, Variant Type 49 11 45 65
Xeroderma Pigmentosum 10 11 68 21 45 22 23 47 12 36
Desanctis-Cacchione Syndrome 21 22 23
Xpv 45 51 67
Xp 45 22 23
Xeroderma Pigmentosum with Normal Dna Repair Rates 45 67
 
Xeroderma Pigmentosum Variant Type 67 24
Xeroderma Pigmentosa 45 22
Photosensitivity with Defective Dna Synthesis 45
Xeroderma Pigmentosum Variant 51
De Sanctis-Cacchione Syndrome 65

Characteristics:

Orphanet epidemiological data:

51
xpv:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

HPO:

61
xeroderma pigmentosum, variant type:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 278750
Disease Ontology10 DOID:0050427
ICD1027 Q82.1
MeSH36 D014983
NCIt42 C3452
SNOMED-CT59 44600005
Orphanet51 90342
ICD10 via Orphanet28 Q82.1
MESH via Orphanet37 C536766
UMLS via Orphanet66 C0432328, C1848410
MedGen34 C1848410
UMLS65 C0043346, C0265201, C1848410

Summaries for Xeroderma Pigmentosum, Variant Type

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OMIM:49 Xeroderma pigmentosum is an autosomal recessive disorder characterized by increased sensitivity to sunlight and defects... (278750) more...

MalaCards based summary: Xeroderma Pigmentosum, Variant Type, also known as xeroderma pigmentosum, is related to xeroderma pigmentosum, group b and xeroderma pigmentosum, group c, and has symptoms including verrucae, freckling and poikiloderma. An important gene associated with Xeroderma Pigmentosum, Variant Type is POLH (Polymerase (DNA) Eta), and among its related pathways are DNA damage_Role of Brca1 and Brca2 in DNA repair and Fanconi anemia pathway. Affiliated tissues include skin and eye, and related mouse phenotypes are adipose tissue and liver/biliary system.

Disease Ontology:10 An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has material basis in autosomal recessive inheritance of DNA repair.

NIH Rare Diseases:45 Xeroderma pigmentosum (xp) is an inherited condition characterized by an extreme sensitivity to ultraviolet (uv) rays from sunlight. this condition mostly affects the eyes and areas of skin exposed to the sun. some affected individuals also have problems involving the nervous system. symptoms typically develop in infancy or early childhood. xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged dna. inherited mutations in at least eight genes have been identified. the condition is inherited in an autosomal recessive manner. last updated: 10/21/2010

UniProtKB/Swiss-Prot:67 Xeroderma pigmentosum variant type: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. XPV shows normal nucleotide excision repair, but an exaggerated delay in recovery of replicative DNA synthesis. Most patients with the variant type of xeroderma pigmentosum do not develop clinical symptoms and skin neoplasias until a later age. Clinical manifestations are limited to photo-induced deterioration of the skin and eyes.

Genetics Home Reference:23 Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system.

Wikipedia:68 Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder of DNA repair in which the... more...

GeneReviews summary for NBK1397

Related Diseases for Xeroderma Pigmentosum, Variant Type

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Diseases in the Xeroderma Pigmentosum, Variant Type family:

Xeroderma Pigmentosum, Type 2 Xeroderma Pigmentosum, Type 9
Ddb2-Related Xeroderma Pigmentosum Ercc1-Related Xeroderma Pigmentosum
Ercc2-Related Xeroderma Pigmentosum Ercc3-Related Xeroderma Pigmentosum
Ercc4-Related Xeroderma Pigmentosum Ercc5-Related Xeroderma Pigmentosum
Polh-Related Xeroderma Pigmentosum Xpa-Related Xeroderma Pigmentosum
Xpc-Related Xeroderma Pigmentosum

Diseases related to Xeroderma Pigmentosum, Variant Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum, group b34.5ERCC2, ERCC3
2xeroderma pigmentosum, group c33.8CETN2, DDB2, ERCC3, ERCC5, ERCC8, RAD23B
3de sanctis-cacchione syndrome31.5ERCC2, ERCC5, ERCC6
4xeroderma pigmentosum, group f13.0
5xeroderma pigmentosum, group g13.0
6xeroderma pigmentosum, group d12.9
7xeroderma pigmentosum, group a12.9
8xeroderma pigmentosum, group e, ddb-negative subtype12.9
9xeroderma pigmentosum-cockayne syndrome complex12.6
10xeroderma pigmentosum, type 912.6
11ercc1-related xeroderma pigmentosum12.5
12xeroderma pigmentosum, type 212.5
13ddb2-related xeroderma pigmentosum12.5
14ercc2-related xeroderma pigmentosum12.5
15ercc3-related xeroderma pigmentosum12.5
16ercc4-related xeroderma pigmentosum12.5
17ercc5-related xeroderma pigmentosum12.5
18polh-related xeroderma pigmentosum12.5
19xpa-related xeroderma pigmentosum12.5
20xpc-related xeroderma pigmentosum12.5
21chromosome xp deletion12.4
22cockayne syndrome, type a10.9
23cerebrooculofacioskeletal syndrome 310.8
24cockayne syndrome, type b10.7
25hyperammonemia due to n-acetylglutamate synthase deficiency10.4ERCC3, ERCC5
26retinitis10.4
27coenzyme q cytochrome c reductase deficiency of10.3ERCC6, ERCC8
28rheumatoid arthritis10.3
29arthritis10.3
30xfe progeroid syndrome10.3ERCC1, ERCC4
31acrodermatitis enteropathica10.3ERCC1, ERCC2, ERCC3
32corneal edema10.3ERCC2, TP53, XPA
33cerebrooculofacioskeletal syndrome 110.2ERCC6, ERCC8
34cockayne syndrome type ii10.2ERCC4, ERCC6, ERCC8
35exostoses, multiple, type 210.2DDB1, DDB2, XPC
36leukemia10.2
37myeloid leukemia10.2
38neuropathy10.2
39auditory neuropathy10.2
40trichothiodystrophy 1, photosensitive10.2ERCC2, ERCC3, XPC, XRCC1
41cockayne syndrome type iii10.2ERCC1, ERCC6, ERCC8
42pancreatic serous cystadenoma10.2ERCC1, ERCC4, XPA
43diffuse idiopathic pulmonary neuroendocrine cell hyperplasia10.2ERCC1, ERCC2, XRCC3
44adult central nervous system mixed germ cell tumor10.2ERCC2, TP53, XRCC1
45connective tissue benign neoplasm10.2ERCC2, POLH, TP53, XPA
46acute pyelonephritis10.2ERCC1, TP53
47dyskinetic cerebral palsy10.2ERCC4, TP53, XRCC1
48microglandular adenosis10.1TP53, XRCC1
49glottis neoplasm10.1ERCC4, XRCC1, XRCC3
50y-linked disease10.1ERCC2, ERCC3, XPA

Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Variant Type:



Diseases related to xeroderma pigmentosum, variant type

Symptoms for Xeroderma Pigmentosum, Variant Type

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Symptoms by clinical synopsis from OMIM:

278750

Clinical features from OMIM:

278750

Symptoms:

 51 (show all 10)
  • skin photosensitivity
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • excessive freckling
  • telangiectasic erythema/poikiloderma
  • warts/papillomas
  • autosomal recessive inheritance
  • skin hypoplasia/aplasia/atrophy
  • dry/squaly skin/exfoliation
  • telangiectasiae of the skin
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)

HPO human phenotypes related to Xeroderma Pigmentosum, Variant Type:

(show all 58)
id Description Frequency HPO Source Accession
1 verrucae hallmark (90%) HP:0200043
2 freckling hallmark (90%) HP:0001480
3 poikiloderma hallmark (90%) HP:0001029
4 cutaneous photosensitivity hallmark (90%) HP:0000992
5 abnormality of the teeth hallmark (90%) HP:0000164
6 conjunctival telangiectasia hallmark (90%) HP:0000524
7 optic atrophy hallmark (90%) HP:0000648
8 dry skin hallmark (90%) HP:0000958
9 thin skin hallmark (90%) HP:0000963
10 eeg abnormality hallmark (90%) HP:0002353
11 developmental regression hallmark (90%) HP:0002376
12 arthralgia hallmark (90%) HP:0002829
13 abnormality of temperature regulation hallmark (90%) HP:0004370
14 cognitive impairment hallmark (90%) HP:0100543
15 telangiectasia of the skin hallmark (90%) HP:0100585
16 telangiectasia of the skin typical (50%) HP:0100585
17 dry skin typical (50%) HP:0000958
18 cryptorchidism typical (50%) HP:0000028
19 sensorineural hearing impairment typical (50%) HP:0000407
20 strabismus typical (50%) HP:0000486
21 cataract typical (50%) HP:0000518
22 hyperkeratosis typical (50%) HP:0000962
23 hypermelanotic macule typical (50%) HP:0001034
24 hypopigmented skin patches typical (50%) HP:0001053
25 melanoma typical (50%) HP:0002861
26 verrucae typical (50%) HP:0200043
27 microcephaly occasional (7.5%) HP:0000252
28 blepharitis occasional (7.5%) HP:0000498
29 photophobia occasional (7.5%) HP:0000613
30 melanocytic nevus occasional (7.5%) HP:0000995
31 pterygium occasional (7.5%) HP:0001059
32 seizures occasional (7.5%) HP:0001250
33 hypertonia occasional (7.5%) HP:0001276
34 reduced tendon reflexes occasional (7.5%) HP:0001315
35 alopecia occasional (7.5%) HP:0001596
36 abnormality of extrapyramidal motor function occasional (7.5%) HP:0002071
37 cerebral cortical atrophy occasional (7.5%) HP:0002120
38 incoordination occasional (7.5%) HP:0002311
39 delayed skeletal maturation occasional (7.5%) HP:0002750
40 aminoaciduria occasional (7.5%) HP:0003355
41 short stature occasional (7.5%) HP:0004322
42 craniofacial hyperostosis occasional (7.5%) HP:0004493
43 opacification of the corneal stroma occasional (7.5%) HP:0007759
44 abnormality of the palpebral fissures occasional (7.5%) HP:0008050
45 peripheral neuropathy occasional (7.5%) HP:0009830
46 neoplasm of the eye occasional (7.5%) HP:0100012
47 neoplasm of the oral cavity occasional (7.5%) HP:0100649
48 cutaneous melanoma HP:0012056
49 dermal atrophy HP:0004334
50 squamous cell carcinoma HP:0002860
51 basal cell carcinoma HP:0002671
52 poikiloderma HP:0001029
53 cutaneous photosensitivity HP:0000992
54 ectropion HP:0000656
55 entropion HP:0000621
56 photophobia HP:0000613
57 conjunctivitis HP:0000509
58 keratitis HP:0000491

Drugs & Therapeutics for Xeroderma Pigmentosum, Variant Type

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Drugs for Xeroderma Pigmentosum, Variant Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LenalidomideapprovedPhase 2674191732-72-6216326
Synonyms:
1-oxo-2-(2,6-Dioxopiperidin-3-yl)-4-aminoisoindoline
191732-72-6
3-(4-Amino-1-oxo-1,3-dihydro-2H-isoindol-2-yl)piperidine-2,6-dione
3-(4-Amino-1-oxoisoindolin-2-yl)piperidine-2,6-dione
3-(7-Amino-3-oxo-1H-isoindol-2-yl)-piperidine-2,6-dione
3-(7-amino-3-oxo-1H-isoindol-2-yl)piperidine-2,6-dione
346670-73-3
443912-14-9
AC-914
AC1L50II
AKOS005146276
ALBB-015321
Bio-0168
C467567
CC 5013
CC-5013
CC-5013, Revlimid, Lenalidomide
CC5013
CDC 501
CDC-501
CDC-5013
CHEMBL848
CID216326
Celgene brand of lenalidomide
D04687
 
DB00480
EC-000.2340
ENMD-0997
I06-0831
IMID-1
IMID-5013
IMiD3
IMiD3 cpd
IMid-1
LS-184040
Lenalidomide
Lenalidomide (USAN/INN)
Lenalidomide [USAN]
MolPort-003-848-370
NCGC00167491-01
NSC747972
Revamid
Revimid
Revlimid
Revlimid (Celgene)
Revlimid (TN)
S1029_Selleck
STK639603
Thalidomide analog CC-5013
UNII-F0P408N6V4
lenalidomide
2Angiogenesis InhibitorsPhase 23688
3Immunologic FactorsPhase 218483
4Immunosuppressive AgentsPhase 210422
5Anti-Infective AgentsPhase 217220
6Angiogenesis Modulating AgentsPhase 23611
7Anti-Bacterial AgentsPhase 29140
8
Isotretinoinapproved1154759-48-25538, 5282379
Synonyms:
(13-cis)-Retinoate
(13-cis)-Retinoic acid
(13cis)-retinoic acid
(2Z,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraenoic acid
(2Z,4E6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid
(7E,9E,11E,13Z)-retinoic acid
(7e,9e,11e,13Z)-Retinoic acid
13 Cis-Retinoic Acid
13 cis retinoic acid
13-RA
13-cis RA
13-cis retinoic acid
13-cis-Retinoate
13-cis-Retinoic acid
13-cis-Vitamin A acid
13-cis-Vitamin a acid
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)2-cis-4-trans-6-trans-8-trans-nonatetraenoic acid
4-09-00-02388 (Beilstein Handbook Reference)
4759-48-2
97950-17-9
AC-15388
AC1NQZZ4
Absorica
Accutane
Accutane (TN)
Ambap302-79-4
Amnesteem
BML2-E07
BPBio1_000080
BRD-K76723084-001-05-9
BRN 1885770
BSPBio_000072
BSPBio_001331
BSPBio_003345
CCRIS 4286
CHEBI:6067
CHEMBL547
CID5282379
CIP-Isotretinoin
CPD000471891
Claravis
Clarus
D00348
D015474
EINECS 225-296-0
EU-0101081
Epuris
HMS1361C13
HMS1568D14
HMS1791C13
HMS1921D08
HMS1989C13
HMS2092N07
HSDB 3929
IDI1_033801
Isotane
Isotretinoin
Isotretinoin (USP)
 
Isotretinoin Retinoic acid
Isotretinoin Zinc Salt, 13 cis Isomer
Isotretinoin Zinc Salt, 13-cis-Isomer
Isotretinoin [USAN:BAN:INN]
Isotretinoin [USAN:INN:BAN]
Isotretinoina
Isotretinoine
Isotretinoine [INN-French]
Isotretinoino
Isotretinoino [INN-Spanish]
Isotretinoinum
Isotretinoinum [INN-Latin]
Isotrex
LMPR01090021
LS-143465
Lopac0_001081
MLS001074662
MolPort-003-666-394
Myorisan
NCGC00094358-01
NCGC00094358-02
NCGC00094358-03
NCGC00094358-04
NCGC00094358-05
NCGC00094358-06
NCGC00094358-07
NCGC00094358-08
NCGC00094358-09
NCGC00094358-13
Neovitamin A acid
Neovitamin a acid
Prestwick2_000256
Prestwick3_000256
Prestwick_642
R 3255
R3255_SIGMA
Retinoate
Retinoic acid
Ro 4 3780
Ro 4-3780
Ro 43780
Ro-4-3780
Ro-43780
Roaccutan
Roaccutane
Roacutan
SAM002548955
SMR000471891
SPECTRUM1502013
Sotret
Sotret (TN)
Spectrum5_001795
Spectrum5_001937
Teriosal
UNII-EH28UP18IF
Zenatane
cis-RA
cis-Retinoate
cis-Retinoic acid
isotretinoino
9Sunscreening Agents79
10Dermatologic Agents4555
11Protective Agents5651
12Radiation-Protective Agents333

Interventional clinical trials:

idNameStatusNCT IDPhase
1T4N5 Liposome Lotion Compared With Placebo Lotion for Preventing Actinic Keratoses in Patients With Xeroderma PigmentosumActive, not recruitingNCT00002811Phase 3
2Lenalidomide in Kaposi Disease Associated With HIV InfectionTerminatedNCT01282047Phase 2
3Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk PatientsCompletedNCT00555633
4Isotretinoin in Preventing Skin CancerCompletedNCT00025012
5Xeroderma Pigmentosum Patient ExperiencesRecruitingNCT01123694
6Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or TrichothiodystrophyRecruitingNCT00001813
7Cancer Risk in Carriers of the Gene for Xeroderma PigmentosumRecruitingNCT00046189
8Influence of Genetic Polymorphisms in the Pathogenesis of Endometriosis in Sardinian PopulationNot yet recruitingNCT02388854

Search NIH Clinical Center for Xeroderma Pigmentosum, Variant Type


Cochrane evidence based reviews: xeroderma pigmentosum

Genetic Tests for Xeroderma Pigmentosum, Variant Type

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Genetic tests related to Xeroderma Pigmentosum, Variant Type:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum22 XPC

Anatomical Context for Xeroderma Pigmentosum, Variant Type

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MalaCards organs/tissues related to Xeroderma Pigmentosum, Variant Type:

33
Skin, Eye

Animal Models for Xeroderma Pigmentosum, Variant Type or affiliated genes

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MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Variant Type:

38 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.4ERCC1, ERCC2, ERCC6, RAD23B, TP53, XPA
2MP:00053709.0CUL4A, ERCC1, ERCC4, ERCC5, ERCC6, TP53
3MP:00053868.4ERCC1, ERCC2, ERCC3, ERCC6, ERCC8, RAD23B
4MP:00053918.3CETN2, DDB1, ERCC2, ERCC6, ERCC8, RAD23B
5MP:00107718.1DDB2, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6
6MP:00053977.9CUL4A, ERCC1, ERCC2, ERCC5, ERCC6, ERCC8
7MP:00053877.7CUL4A, ERCC1, ERCC2, ERCC5, ERCC6, ERCC8
8MP:00053767.5CUL4A, ERCC1, ERCC2, ERCC5, ERCC6, ERCC8
9MP:00020067.5CUL4A, DDB2, ERCC1, ERCC2, ERCC3, ERCC6
10MP:00053786.5CETN2, CUL4A, DDB2, ERCC1, ERCC2, ERCC3
11MP:00053846.2CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2
12MP:00107685.6CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2

Publications for Xeroderma Pigmentosum, Variant Type

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Articles related to Xeroderma Pigmentosum, Variant Type:

idTitleAuthorsYear
1
The versatile role of gliadin peptides in celiac disease. (23142684)
2013
2
Henoch-SchAPnlein Purpura during Isotretinoin Therapy. (23463835)
2013
3
Anti-inflammatory effect of miglustat in bronchial epithelial cells. (18815075)
2008
4
Research shows that highly potent vaccine reduces the burden of herpes zoster and the incidence of postherpetic neuralgia in older adults. (16783098)
2005

Variations for Xeroderma Pigmentosum, Variant Type

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UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Variant Type:

67
id Symbol AA change Variation ID SNP ID
1POLHp.Arg111HisVAR_021227
2POLHp.Thr122ProVAR_021228
3POLHp.Gly263ValVAR_021230
4POLHp.Arg361SerVAR_021232
5POLHp.Lys535GluVAR_021234rs56307355
6POLHp.Lys589ThrVAR_021236
7POLHp.Arg93ProVAR_070836
8POLHp.Val266AspVAR_070837
9POLHp.Gly295ArgVAR_070838
10POLHp.Thr692AlaVAR_070839

Clinvar genetic disease variations for Xeroderma Pigmentosum, Variant Type:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1POLHNM_006502.2(POLH): c.764+1G> Asingle nucleotide variantPathogenicrs772570523GRCh38Chr 6, 43601092: 43601092
2POLHNM_006502.2(POLH): c.907C> Tsingle nucleotide variantPathogenicrs759607901GRCh38Chr 6, 43604637: 43604637
3POLHPOLH, 13-BP DEL, NT343deletionPathogenic
4POLHPOLH, 4-BP DEL, NT289deletionPathogenic
5POLHPOLH, 2-BP DEL, NT770deletionPathogenic
6POLHNM_006502.2(POLH): c.916G> T (p.Glu306Ter)single nucleotide variantPathogenicrs121908562GRCh37Chr 6, 43572383: 43572383
7POLHPOLH, DEL AND TRP297TERdeletionPathogenic
8POLHNM_006502.2(POLH): c.376C> T (p.Gln126Ter)single nucleotide variantPathogenicrs121908563GRCh37Chr 6, 43555112: 43555112
9POLHNM_006502.2(POLH): c.1117C> T (p.Gln373Ter)single nucleotide variantPathogenicrs121908564GRCh37Chr 6, 43578333: 43578333
10POLHPOLH, 104-BP DEL, NT661deletionPathogenic
11POLHPOLH, 1-BP DEL, 207GdeletionPathogenic
12POLHPOLH, 3-BP DEL, NT222deletionPathogenic
13POLHNM_006502.2(POLH): c.1603A> G (p.Lys535Glu)single nucleotide variantPathogenicrs56307355GRCh37Chr 6, 43581755: 43581755
14POLHNM_006502.2(POLH): c.1766A> C (p.Lys589Thr)single nucleotide variantPathogenicrs121908565GRCh37Chr 6, 43581918: 43581918

Cosmic variations for Xeroderma Pigmentosum, Variant Type:

7 (show top 50)    (show all 881)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM29349PTCH1skin,NS,carcinoma,basal cell carcinoma3
2COSM29349PTCH1skin,NS,carcinoma,basal cell carcinoma3
3COSM29349PTCH1skin,NS,carcinoma,basal cell carcinoma3
4COSM29348PTCH1skin,NS,carcinoma,basal cell carcinoma3
5COSM29349PTCH1skin,NS,carcinoma,basal cell carcinoma3
6COSM29349PTCH1skin,NS,carcinoma,basal cell carcinoma3
7COSM96936PTCH1skin,NS,carcinoma,basal cell carcinoma3
8COSM96936PTCH1skin,NS,carcinoma,basal cell carcinoma3
9COSM29349PTCH1skin,NS,carcinoma,basal cell carcinoma3
10COSM29348PTCH1skin,NS,carcinoma,basal cell carcinoma3
11COSM29348PTCH1skin,NS,carcinoma,basal cell carcinoma3
12COSM29070PTCH1skin,NS,carcinoma,basal cell carcinoma3
13COSM29068PTCH1skin,NS,carcinoma,basal cell carcinoma3
14COSM29068PTCH1skin,NS,carcinoma,basal cell carcinoma3
15COSM29068PTCH1skin,NS,carcinoma,basal cell carcinoma3
16COSM29070PTCH1skin,NS,carcinoma,basal cell carcinoma3
17COSM29071PTCH1skin,NS,carcinoma,basal cell carcinoma3
18COSM29147PTCH1skin,NS,carcinoma,basal cell carcinoma3
19COSM29147PTCH1skin,NS,carcinoma,basal cell carcinoma3
20COSM29071PTCH1skin,NS,carcinoma,basal cell carcinoma3
21COSM96957PTCH1skin,NS,carcinoma,basal cell carcinoma3
22COSM96957PTCH1skin,NS,carcinoma,basal cell carcinoma3
23COSM96964PTCH1skin,NS,carcinoma,basal cell carcinoma3
24COSM96964PTCH1skin,NS,carcinoma,basal cell carcinoma3
25COSM96963PTCH1skin,NS,carcinoma,basal cell carcinoma3
26COSM96963PTCH1skin,NS,carcinoma,basal cell carcinoma3
27COSM96964PTCH1skin,NS,carcinoma,basal cell carcinoma3
28COSM96965PTCH1skin,NS,carcinoma,basal cell carcinoma3
29COSM96966PTCH1skin,NS,carcinoma,basal cell carcinoma3
30COSM96965PTCH1skin,NS,carcinoma,basal cell carcinoma3
31COSM96965PTCH1skin,NS,carcinoma,basal cell carcinoma3
32COSM96963PTCH1skin,NS,carcinoma,basal cell carcinoma3
33COSM96960PTCH1skin,NS,carcinoma,basal cell carcinoma3
34COSM96958PTCH1skin,NS,carcinoma,basal cell carcinoma3
35COSM96958PTCH1skin,NS,carcinoma,basal cell carcinoma3
36COSM96958PTCH1skin,NS,carcinoma,basal cell carcinoma3
37COSM96957PTCH1skin,NS,carcinoma,basal cell carcinoma3
38COSM96959PTCH1skin,NS,carcinoma,basal cell carcinoma3
39COSM96959PTCH1skin,NS,carcinoma,basal cell carcinoma3
40COSM96960PTCH1skin,NS,carcinoma,basal cell carcinoma3
41COSM96960PTCH1skin,NS,carcinoma,basal cell carcinoma3
42COSM96959PTCH1skin,NS,carcinoma,basal cell carcinoma3
43COSM29068PTCH1skin,NS,carcinoma,basal cell carcinoma3
44COSM29068PTCH1skin,NS,carcinoma,basal cell carcinoma3
45COSM29033PTCH1skin,NS,carcinoma,basal cell carcinoma3
46COSM26381PTCH1skin,NS,carcinoma,basal cell carcinoma3
47COSM26381PTCH1skin,NS,carcinoma,basal cell carcinoma3
48COSM14439PTCH1skin,NS,carcinoma,basal cell carcinoma3
49COSM29033PTCH1skin,NS,carcinoma,basal cell carcinoma3
50COSM29040PTCH1skin,NS,carcinoma,basal cell carcinoma3

Expression for genes affiliated with Xeroderma Pigmentosum, Variant Type

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Search GEO for disease gene expression data for Xeroderma Pigmentosum, Variant Type.

Pathways for genes affiliated with Xeroderma Pigmentosum, Variant Type

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Pathways related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
19.7DDB2, TP53, XPC
2
Show member pathways
9.6ERCC1, ERCC4, POLH, RPA1
3
Show member pathways
9.5ERCC1, ERCC4, POLH, RPA1
4
Show member pathways
9.2ERCC1, ERCC4, POLH, RPA1, XRCC3
5
Show member pathways
9.1ERCC2, ERCC3, ERCC6, GTF2H2
68.9ERCC1, ERCC2, ERCC3, ERCC4, ERCC6, POLH
7
Show member pathways
8.8CUL4A, DDB1, POLH, RPA1, XRCC1
88.7ERCC2, ERCC3, GTF2H2, TP53, XPA, XPC
9
Show member pathways
8.4DDB2, ERCC2, ERCC3, ERCC4, GTF2H2, RPA1
10
Show member pathways
6.7ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
11
Show member pathways
5.7CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2
12
Show member pathways
5.4CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2
13
Show member pathways
4.5CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2

GO Terms for genes affiliated with Xeroderma Pigmentosum, Variant Type

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Cellular components related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:00056548.2CETN2, CUL4A, DDB2, GTF2H2, RAD23B, XPA

Biological processes related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair involved in interstrand cross-link repairGO:190125510.7ERCC4, XPA
2pyrimidine dimer repairGO:000629010.7ERCC6, POLH
3response to auditory stimulusGO:001099610.6XPA, XPC
4embryonic organ developmentGO:004856810.5ERCC1, ERCC3
5error-free translesion synthesisGO:007098710.5POLH, RPA1
6t-circle formationGO:009065610.5ERCC1, XRCC3
7translesion synthesisGO:001998510.4DDB1, POLH
8base-excision repairGO:000628410.2RPA1, TP53, XPA
9multicellular organism growthGO:003526410.1ERCC1, ERCC2, ERCC6
10UV protectionGO:000965010.0ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
11transcription from RNA polymerase I promoterGO:000636010.0ERCC2, ERCC3, GTF2H2
12termination of RNA polymerase I transcriptionGO:00063639.9ERCC2, ERCC3, GTF2H2
13protein sumoylationGO:00169259.9CETN2, TP53, XPC
14transcription elongation from RNA polymerase I promoterGO:00063629.9ERCC2, ERCC3, GTF2H2
15histone H2A monoubiquitinationGO:00355189.8DDB1, DDB2
16UV-damage excision repairGO:00709149.8DDB1, DDB2, XPA, XPC
17nucleotide-excision repair, DNA damage recognitionGO:00007159.7CUL4A, RAD23B, XPC
18DNA damage response, detection of DNA damageGO:00427699.7CUL4A, DDB1, RPA1
19response to oxidative stressGO:00069799.6ERCC1, ERCC2, ERCC3, ERCC6, XPA
20response to UVGO:00094119.5ERCC2, ERCC3, ERCC6, GTF2H2
21proteasome-mediated ubiquitin-dependent protein catabolic processGO:00431619.3CUL4A, DDB1, RAD23B, TP53
22nucleotide-excision repair, DNA incision, 5-to lesionGO:00062968.9CUL4A, ERCC3, ERCC4, ERCC5, GTF2H2, RPA1
23nucleotide-excision repair, DNA duplex unwindingGO:00007178.8CETN2, CUL4A, DDB2, ERCC2, ERCC3
24nucleotide-excision repair, DNA incision, 3-to lesionGO:00062958.5CUL4A, DDB1, DDB2, ERCC1, ERCC3, ERCC4
25viral processGO:00160328.5CUL4A, DDB1, ERCC2, ERCC3, GTF2H2, TP53
26nucleotide-excision repair, preincision complex stabilizationGO:00062938.3CUL4A, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
27nucleotide-excision repair, DNA incisionGO:00336838.3CUL4A, DDB1, DDB2, ERCC1, ERCC2, ERCC4
28nucleotide-excision repairGO:00062898.2CUL4A, DDB1, DDB2, ERCC1, ERCC4, ERCC8
29cellular response to DNA damage stimulusGO:00069748.1CUL4A, ERCC1, ERCC6, ERCC8, RAD23B, TP53
30nucleotide-excision repair, preincision complex assemblyGO:00062947.9CUL4A, DDB1, DDB2, ERCC3, GTF2H2, RAD23B
31global genome nucleotide-excision repairGO:00709117.4CUL4A, DDB1, DDB2, ERCC1, ERCC2, ERCC3
32DNA repairGO:00062817.2DDB2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
33transcription-coupled nucleotide-excision repairGO:00062837.1CUL4A, DDB1, ERCC1, ERCC2, ERCC3, ERCC4

Molecular functions related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclease activityGO:000451810.3ERCC4, ERCC5
2protein C-terminus bindingGO:000802210.1ERCC1, ERCC3, ERCC4
3DNA bindingGO:00036779.2ERCC3, ERCC4, ERCC6, TP53, XPC
4DNA-dependent ATPase activityGO:00080949.1ERCC2, ERCC3, GTF2H2, XRCC3
5single-stranded DNA bindingGO:00036978.8ERCC1, ERCC4, ERCC5, RAD23B, RPA1, XPC

Sources for Xeroderma Pigmentosum, Variant Type

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet